Variant report

Variant	rs10916625
Chromosome Location	chr1:224682884-224682885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224673144..224674916-chr1:224682386..224684987,2	K562	blood:
2	chr1:224677828..224680425-chr1:224681329..224683166,2	K562	blood:
3	chr1:224672501..224674916-chr1:224682386..224684660,2	K562	blood:
4	chr1:224640045..224642435-chr1:224680202..224683058,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10495220	0.88[YRI][hapmap]
rs12121977	0.87[YRI][hapmap]
rs12128292	0.88[YRI][hapmap]
rs12140423	0.88[YRI][hapmap]
rs56168737	0.81[AFR][1000 genomes]
rs7526329	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10916625	C1orf95	cis	cerebellum	SCAN
rs10916625	CNIH3	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224677200-224685000	Weak transcription	NHLF	lung
2	chr1:224677600-224683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224677800-224683400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:224677800-224684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:224677800-224685400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:224678000-224683000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:224678200-224683200	Weak transcription	Osteobl	bone
9	chr1:224679200-224683400	Weak transcription	HSMM	muscle
10	chr1:224679800-224689600	Weak transcription	Pancreas	Pancrea
11	chr1:224680000-224683000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:224680000-224685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:224680800-224683400	Weak transcription	NHDF-Ad	bronchial
14	chr1:224681000-224683000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:224681000-224683200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:224681600-224684800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:224681600-224685400	Weak transcription	Esophagus	oesophagus
18	chr1:224681800-224684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:224681800-224685600	Weak transcription	Stomach Mucosa	stomach
20	chr1:224682000-224684400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:224682000-224685200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:224682200-224685400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:224682200-224685800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:224682400-224685200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:224682400-224685200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:224682600-224684000	Enhancers	Fetal Muscle Leg	muscle
27	chr1:224682600-224684200	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:224682600-224684600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:224682800-224683800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:224682800-224685200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:224682800-224686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:224682800-224690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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